The atypical mucosal presentation had already prompted a suspicion of an underlying immunodeficiency at the time of initial presentation (11). [frontiersin.org]

Individuals with Down syndrome are known to have abnormal function of the B-cell function, which might present with high IgG and low IgM serum level. [adc.bmj.com]

So although the problem presents as an inability of B cells to make an appropriate antibody response to infections, the defect is on T cells. [dermnetnz.org]

Present Interpretation Provides information to assist in interpretation of the test results This is a qualitative assay; CD40L-protein expression and function is reported as present or absent. [mayocliniclabs.com]

For example, some HIGM patients presented with cytoplasmic and a smooth nuclear rim-staining pattern, while some presented with a nuclear dot staining pattern (Figures 2a and b). [nature.com]

• Anemia

  Another patient with the same variant (p.Arg11∗) has been described by (33); the patient was a previously completely healthy 8-year-old boy who presented with anemia, which was later recognized as parvovirus B19 induced anemia. [frontiersin.org]

  Some patients with a milder form of the disease, present in adolescence with a Parvovirus-induced aplastic anemia. [cancertherapyadvisor.com]

  Low levels of red cells (anemia) and platelets (thrombocytopenia) are most common. Other autoimmune conditions can develop including inflammation of the liver (hepatitis), and in rare cases, inflammatory bowel syndrome and arthritis. [rarediseases.org]

  […] phenotype.5 In a somewhat paradoxical manner, the susceptibility to opportunistic and bacterial infections seen in HIGM patients is accompanied by a vulnerability to develop autoimmune diseases such as immune thrombocytopenia, Coombs-positive hemolytic anemia [nature.com]

  Neutropenia, anemia, and thrombocytopenia are common. An increased risk of GI tract malignancies has been reported. [emedicine.medscape.com]

• Asymptomatic

  It is inherited from the mother who is an asymptomatic carrier. Diagnosis is usually made before the age of 12 months when the male infant presents with unusual or severe infections. [dermnetnz.org]

  Females are typically carriers and asymptomatic. Consequently, this test is only indicated in young males (<10 years of age) or, to identify carriers, in females of child-bearing age (<45 years). [mayocliniclabs.com]

  Case Report A 23-year-old Kuwaiti male with hyper-IgM syndrome secondary to autosomal recessive activation-induced cytidine deaminase (AID) deficiency, on regular intravenous immunoglobulin replacement therapy, presented with an 8-month history of an asymptomatic [karger.com]

  The disease is caused by opportunistic infection by the JC virus (JCV).5 The primary infection is common and usually remains asymptomatic. [jamanetwork.com]

  If the normal copy prevails, then female carriers can be and remain completely asymptomatic. If the mutant copy prevails, then carrier females can develop symptoms of the disorder. Unlike females, males have only one X chromosome. [rarediseases.org]

• Recurrent Infection

  Recurrent infection is the hallmark of all immunodeficiency diseases. Recurrent sinopulmonary infections are seen in antibody deficiency diseases as well as in the combined (Tcell and antibody) immune deficiencies. [cancertherapyadvisor.com]

  Clinical presentations All patients experienced chronic and recurrent infections, particularly recurrent ear, nose and throat (ENT) infections involving the respiratory and gastrointestinal systems, during the course of the disease. [nature.com]

  The effect of two different dosages of intravenous immunoglobulin on the incidence of recurrent infections in patients with primary hypogammaglobulinemia. A randomized, double-blind, multicenter crossover trial. [emedicine.medscape.com]

• Recurrent Bacterial Infection

  Patients with these syndromes typically have recurrent bacterial infections and often have lymphoid hyperplasia. [genome.jp]

• Sepsis

  HYPER IGM SYNDROME TYPE 4 Affected individuals have developed infections of the sinuses and lungs (sinopulmonary infections), widespread infection of the blood (sepsis), inflammation and infection of the lymph nodes (lymphadenitis), and infection and [rarediseases.org]

• Pneumonia

  Pneumonia affects over 80% of patients; Pneumocystis jiroveci pneumonia is the presenting problem in 40% (previously known as Pneumocystis carinii) Ear infections (otitis) Sinus infections (sinusitis) Central nervous system infections (bacterial, viral [dermnetnz.org]

  However, patients with one of the X-linked forms of hyper IgM also frequently present in infancy with Pneumocystis carinii pneumonia. [lvts.fr]

  Treatment Since Hyper IgM patients are especially vulnerable to opportunistic bacterial, fungi and viral infections, they are often put on a regimen of both antibiotics to prevent pneumocystis jirovecii pneumonia (a deadly lung disease) as well as weekly [hyperigm.org]

  Common infections include pneumonia, sinus infections (sinusitis), and ear infections (otitis). Infections often cause these children to have chronic diarrhea and they fail to gain weight and grow at the expected rate (failure to thrive). [medlineplus.gov]

• Diarrhea

  Infections often cause these children to have chronic diarrhea and they fail to gain weight and grow at the expected rate (failure to thrive). [medlineplus.gov]

  In addition, parasitic Cryptosporidium is sometimes found in the intestinal tract of affected individuals, causing persistent diarrhea. [rarediseases.org]

  Chronic diarrhea with or without infection has been frequently reported. Neutropenia, anemia, and thrombocytopenia are common. An increased risk of GI tract malignancies has been reported. [emedicine.medscape.com]

  Toxoplasmosis, Pneumocystis jirovecii pneumonia, Cytomegalovirus infections, chronic diarrhea, and sclerosing cholangitis in some cases caused by Cryptosporidium (18, 19). The most common cause of HIGM is defects in CD40L. [frontiersin.org]

  Protracted or recurrent diarrhea was present in four patients (30.77%). Oral thrush due to candidiasis was observed in three patients (23.08%). Moreover, three patients (23.08%) developed adenopathy. [nature.com]

• Chronic Diarrhea

  Infections often cause these children to have chronic diarrhea and they fail to gain weight and grow at the expected rate (failure to thrive). [medlineplus.gov]

  Chronic diarrhea with or without infection has been frequently reported. Neutropenia, anemia, and thrombocytopenia are common. An increased risk of GI tract malignancies has been reported. [emedicine.medscape.com]

  Toxoplasmosis, Pneumocystis jirovecii pneumonia, Cytomegalovirus infections, chronic diarrhea, and sclerosing cholangitis in some cases caused by Cryptosporidium (18, 19). The most common cause of HIGM is defects in CD40L. [frontiersin.org]

  Other findings associated with X-linked hyper-IgM syndrome, some of which may become apparent at as early as six to nine months of age, may include chronic diarrhea that, in some people, may lead to impaired absorption of nutrients by the intestinal tract [rarediseases.org]

• Failure to Thrive

  Clinical features This condition typically presents as unusual, opportunistic or severe infections of upper and lower respiratory or gastrointestinal tracts and is often associated with failure to thrive and enlarged lymph nodes. [dermnetnz.org]

  Infections often cause these children to have chronic diarrhea and they fail to gain weight and grow at the expected rate (failure to thrive). [medlineplus.gov]

  Affected infants with intestinal malabsorption may fail to grow and gain weight at the expected rate (failure to thrive). [rarediseases.org]

Rheumatologic workup revealed positive ANA (1:160) and positive dsDNA (1:40). Antibodies for SS-A (Ro), SS-B(La), and SCL-70 were negative. Infectious disease workup was positive for treponemal antibody and elevated RPR (1:2). [karger.com]

Clinical Testing and Workup Blood tests will be ordered to determine the status of immunoglobulins in the blood, including normal or high levels of IgM and low levels of other immunoglobulin classes. [rarediseases.org]

• Toxoplasma Gondii

  gondii.(1) To date, more than 100 unique mutations of CD40LG, the gene that encodes CD40L, have been described, affecting the intracellular, transmembrane and, more commonly, extracellular domain containing the CD40-binding region. [mayocliniclabs.com]

Ongoing controversies regarding etiology, diagnosis, treatment [cancertherapyadvisor.com]

(C) One month after treatment. Near-normal findings. After completion of the treatment for the third relapse, secondary Leishmania prophylaxis with Miltefosine was initiated. [frontiersin.org]

Click here for more on treatment and lifestyle changes for patients with Hyper IgM Syndrome. A stem cell transplant (also known as a bone marrow transplant) is the only known cure. [hyperigm.org]

The patient was offered empiric treatment for syphilis; however, in light of no prior sexual history, he declined treatment with penicillin at the time of hospitalization. [karger.com]

The patient died after 6 weeks despite combined antiviral treatment. [jamanetwork.com]

The other forms of autosomal recessive hyper IgM (caused by mutations in AID and UNG) have a better prognosis as the defect is mainly an antibody deficiency. [cancertherapyadvisor.com]

Because of the poor prognosis, the treatment of choice is a human leukocyte antigen (HLA)-identical sibling bone marrow transplant at an early age (62,63). Treatment for this condition also includes monthly IVIG infusions (64). [lvts.fr]

Ongoing controversies regarding etiology, diagnosis, treatment [cancertherapyadvisor.com]

Infectious agents and xenobiotics in the etiology of primary biliary cirrhosis. Dis Markers 2010; 29: 287–299. Article Google Scholar 28 Abdulkarim AS, Petrovic LM, Kim WR, Angulo P, Lloyd RV, Lindor KD. [nature.com]

Holman RCJanssen RSBuehler JWZelasky MTHooper WC Epidemiology of progressive multifocal leukoencephalopathy in the United States: analysis of national mortality and AIDS surveillance data. Neurology 1991;411733- 1736PubMedGoogle ScholarCrossref 13. [jamanetwork.com]

Epidemiology Frequency United States In 2003, the US XHIGM registry reported that the minimal incidence rate of XHIGM was approximately 1 in 1,000,000 live births from 1984-1993. [4] This may be an underestimation because not all physicians in the United [emedicine.medscape.com]

[…] for X-linked hyper-IgM (XL-HIGM) or CD40L deficiency, primarily in male patients younger than 10 years of age Ascertaining XL-HIGM carrier status in females of child-bearing age younger than 45 years of age Clinical Information Discusses physiology, pathophysiology [mayocliniclabs.com]

Pathophysiology of B-cell intrinsic immunoglobulin class switch recombination deficiencies. Adv Immunol. 2007. 94:275-306. [Medline]. Eijkhout HW, van Der Meer JW, Kallenberg CG, et al. [emedicine.medscape.com]

Antibody replacement can prevent infections and reduce mortality and morbidity, but cannot prevent cancer and other severe complications. [cancertherapyadvisor.com]

So a mutation that mostly affects T cells, prevents these T cells from “helping” B cells and therefore looks like a B cell problem. [hyperigm.org]

However it may not prevent the opportunistic infections. In some cases it also improves growth. Trimethoprim + sulphamethoxazole may be given prophylactically to prevent Pneumocystis jirovecii infection. [dermnetnz.org]

Mutations in the CD40LG gene lead to the production of an abnormal CD40 ligand or prevent production of this protein. If CD40 ligand does not attach to its receptor on B cells, these cells cannot produce IgG, IgA, or IgE antibodies. [medlineplus.gov]

Platelets are specialized blood cells that help prevent and stop bleeding. [rarediseases.org]